Medical Specialties

Alpha-1 Antitrypsin Deficiency (A1ATD) | Phoenix Children's Hospital Hepatology

Alpha-1 antitrypsin deficiency (A1ATD) is the most common genetic cause of liver disease. In healthy children, the A1ATD protein flows through the blood and protects the lungs. In children with A1ATD, an abnormal form of this protein accumulates in the liver.

Only 10 percent of children who have A1ATD will develop liver disease. Commonly, these children have jaundice in infancy that resolves over the first few months of life.

Symptoms of A1ATD include jaundice, dark urine, itchy skin and bleeding. The liver is gradually scarred and liver function can decline over time.

The diagnosis of A1ATD may require biopsies, blood tests, CAT scans and ultrasound.

Treatments for A1ATD

The goal of treatments for A1ATD is to alleviate symptoms such as itching, fluid accumulation with diuretics, dietary support and surgical shunts for significant portal hypertension.

Sometimes a liver transplant may be needed if significant liver damage has been caused. It is important to avoid all contact with smoking because lung disease (emphysema) develops over the second decade of life.

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